Carrie Hanscom
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Chromosomal and Genetic Variations, Genetics and Neurodevelopmental Disorders, Congenital heart defects research
Most-Cited Works
- → Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries(2012)594 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration(2012)259 cited
- → Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder(2011)246 cited
- → Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome(2017)233 cited
- → Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly(2018)229 cited
- → Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample(2012)197 cited
- → Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research(2011)182 cited
- → SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility(2019)97 cited
- → Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis(2016)97 cited